"Counsyl"[submitter] AND "LOC107303343"[gene] - ClinVar - NCBI

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Items: 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 557545	NM_000022.4(ADA):c.218+2dup	LOC107303343, ADA	Duplication (splice donor variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 550379	NM_000022.4(ADA):c.218+2T>G	ADA, LOC107303343	Single nucleotide variant (splice donor variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely pathogenic
Select item 555722	NM_000022.4(ADA):c.218+1G>A	ADA, LOC107303343	Single nucleotide variant (splice donor variant)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GLikely pathogenic
Select item 555196	NM_000022.4(ADA):c.95+1G>A	ADA, LOC107303343	Single nucleotide variant (splice donor variant)	Severe combined immunodeficiency disease +1 more	GPathogenic
Select item 68267	NM_000022.4(ADA):c.58G>A (p.Gly20Arg)	LOC107303343, ADA (G20R)	Single nucleotide variant (missense variant +2 more)	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 68263	NM_000022.4(ADA):c.43C>G (p.His15Asp)	ADA, LOC107303343 (H15D)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic